Telethon 2024: Mobilization for research that saves lives

Each year, the Telethon mobilizes the whole of France to finance innovative medical research, capable of transforming the lives of patients suffering from rare diseases. The 2024 edition, which will be held on November 29 and 30, highlights the spectacular advances in gene therapy and the urgency of continuing efforts to address the challenges that persist.

The Telethon: A driving force for research into rare and more common diseases

Rare diseases affect a tiny part of the population, but the medical solutions developed for these pathologies open up perspectives for more common diseases. The work financed by the Telethon, particularly in the field of gene therapy, has already changed the destiny of many patients. Pioneering treatments, initially developed for rare genetic diseases, are now inspiring solutions for pathologies such as certain cancers or immune disorders.

Thus, neonatal screening for spinal muscular atrophy in all maternity hospitals in the Grand-Est and Nouvelle-Aquitaine has demonstrated its effectiveness: it made it possible to diagnose 8 children early and administer life-saving treatment to them in less than three weeks. These advances illustrate how research into rare diseases benefits all of medicine and highlights the importance of continuing these efforts.

The 2024 Telethon ambassador families

For the 2024 Telethon, the families of Marley and Mylane, Tim, Félicie, Sacha and Paul will be the ambassadors of this fight, of the victories but also of the many challenges that remain to be met and in the face of which your donations are essential.

• Marley and Mylane, twins suffering from spinal muscular atrophy, were able to receive gene therapy treatment at just 17 days of life, thanks to neonatal screening in Nouvelle-Aquitaine. Today, they are growing up without the serious consequences of their illness, a miracle for their parents, who are campaigning for this screening to be generalized in France.

• Tim, diagnosed with Leber optic neuropathy in 2019, regained some of his central vision thanks to a gene therapy injection. This improvement, exceptional for this disease, allowed him to regain precious autonomy.

• Félicie, suffering from calpainopathy, fights against a progressive illness which affects her daily life. Her mother, Jessica, remains confident thanks to ongoing research into related illnesses that could one day offer a solution.

• Sacha, 8 years old, suffering from Duchenne muscular dystrophy, has benefited since 2022 from an experimental treatment developed by Généthon. The progress is spectacular: he runs, climbs and lives a more normal childhood, a dream for parents of children affected by this emblematic disease.

• Paul, 4 years old, suffers from epidermolysis bullosa, a painful genetic disease. His parents cling to the hope that advances in research will one day relieve his pain and improve his quality of life.

These families are the faces of the collective fight against rare diseases. Their courage and determination remind everyone that every donation counts.

For 95% of patients, treatments remain to be found

The destiny of thousands of families has already changed thanks to advances in research. But 95% of rare diseases remain untreated today and far too many patients are still waiting for a reliable and precise diagnosis.

The AFM-Téléthon conducts research to bring out new therapeutic avenues through 3 cutting-edge laboratories, supporting the Rare Diseases Foundation of which it is the main financier. In 2023, more than 40 clinical trials and 350 research programs have been supported.

However, many challenges remain: controlling immune responses to treatments, producing affordable therapies on a large scale, and extending neonatal screening across the entire country.

The 2024 Telethon is an opportunity to advance this life-saving research. Each donation, small or large, contributes to transforming destinies and writing the future of a more humane and fairer medicine.